Resultados da busca - Arpad von Moers
- Mostrando 1 - 13 resultados de 13
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1
Models for transition clinics por Jaime Carrizosa, Isabelle An, Richard Appleton, Peter Camfield, Arpad von Moers
Publicado em 2014Revisão -
2
Autosomal dominant Glut‐1 deficiency syndrome and familial epilepsy por Knut Brockmann, Dong Wang, Christoph Korenke, Arpad von Moers, Yuan‐Yuan Ho, Juan M. Pascual, Kunyan Kuang, Hong Yang, Li Ma, Pamela Kranz‐Eble, Jorge Fischbarg, F. Hanefeld, Darryl C. De Vivo
Publicado em 2001Artigo -
3
Differential roles of hypoxia and innate immunity in juvenile and adult dermatomyositis por Corinna Preuße, Yves Allenbach, Olaf Hoffmann, Hans‐Hilmar Goebel, Debora Pehl, Josefine Radke, Alexandra Doeser, Udo Schneider, Rieke H.-E. Alten, Tilmann Kallinich, Olivier Benvéniste, Arpad von Moers, Benedikt Schoser, Ulrike Schara, Werner Stenzel
Publicado em 2016Artigo -
4
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency por Heiko Krude, Barbara Schütz, Heike Biebermann, Arpad von Moers, Dirk Schnabel, Heidi Neitzel, Holger Tönnies, Dagmar Weise, Antony Lafferty, S. Schwarz, Mario DeFelice, Andreas von Deimling, Frank K.H. van Landeghem, Roberto DiLauro, Annette Grüters
Publicado em 2002Artigo -
5
Choreoathetosis, hypothyroidism, and pulmonary alterations due to human NKX2-1 haploinsufficiency por Heiko Krude, Barbara Schütz, Heike Biebermann, Arpad von Moers, Dirk Schnabel, Heidi Neitzel, Holger Tönnies, Dagmar Weise, Antony Lafferty, S. Schwarz, Mario DeFelice, Andreas von Deimling, Frank K.H. van Landeghem, Roberto DiLauro, Annette Grüters
Publicado em 2002Artigo -
6
Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation por Emanuela Gussoni, Richard Rodney Bennett, Kristina R. Muskiewicz, Todd E. Meyerrose, Jan A. Nolta, Irene Gilgoff, James H. Stein, Yiu-mo Chan, Hart G.W. Lidov, Carsten G. Bönnemann, Arpad von Moers, Glenn E. Morris, Johan T. den Dunnen, Jeffrey S. Chamberlain, Louis M. Kunkel, Kenneth I. Weinberg
Publicado em 2002Artigo -
7
Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation por Emanuela Gussoni, Richard Rodney Bennett, Kristina R. Muskiewicz, Todd E. Meyerrose, Jan A. Nolta, Irene Gilgoff, James H. Stein, Yiu-mo Chan, Hart G.W. Lidov, Carsten G. Bönnemann, Arpad von Moers, Glenn E. Morris, Johan T. den Dunnen, Jeffrey S. Chamberlain, Louis M. Kunkel, Kenneth I. Weinberg
Publicado em 2002Artigo -
8
Safety and efficacy of tamoxifen in non-ambulant patients with Duchenne muscular dystrophy: a multicentre, randomised, double–blind, placebo–controlled, phase 3 trial (TAMDMD Group... por Bettina Henzi, Niveditha Putananickal, Simone Schmidt, Sara Nagy, Daniela Rubino-Nacht, Sabine Schaedelin, Helge Amthor, Anne‐Marie Childs, Nicolas Deconinck, Iain Horrocks, S. Houwen-van Opstal, Vincent Laugel, Mercedes López Lobato, A. Nascimento Osorio, Ulrike Schara‐Schmidt, Stefan Spinty, Arpad von Moers, Fiona Lawrence, Patricia Hafner, O.M. Dorchies, Dirk Fischer
Publicado em 2025Artigo -
9
Clinical and molecular characterisation of hereditary dopamine transporter deficiency syndrome: an observational cohort and experimental study por Manju A. Kurian, Yan Li, Juan Zhen, Esther Meyer, Nebula A. Hai, H.‐J. Christen, Georg F. Hoffmann, Philip Jardine, Arpad von Moers, Santosh Mordekar, Finbar O’Callaghan, Evangeline Wassmer, Elizabeth Wraige, Christa Dietrich, Timothy Lewis, Keith Hyland, Simon Heales, Terence D. Sanger, Paul Gissen, Birgit Assmann, Maarten E. A. Reith, Eamonn R. Maher
Publicado em 2010Artigo -
10
Clinical, neuroradiological and molecular characterization of cerebellar dysplasia with cysts (Poretti–Boltshauser syndrome) por Alessia Micalizzi, Andrea Poretti, Marta Romani, Monia Ginevrino, Tommaso Mazza, Chiara Aiello, Ginevra Zanni, Bastian Baumgartner, Renato Borgatti, Knut Brockmann, Ana Camacho, Gaetano Cantalupo, Martin Haeusler, Christiane Hikel, Andrea Klein, Giorgia Mandrile, Eugenio Mercuri, D. Rating, Romina Romaniello, Filippo M. Santorelli, Mareike Schimmel, Luigina Spaccini, Serap Teber, Arpad von Moers, Sarah Wente, Andreas Ziegler, Andrea Zonta, Enrico Bertini, Eugen Boltshauser, Enza Maria Valente
Publicado em 2016Artigo -
11
Mutations in the RNA exosome component gene EXOSC3 cause pontocerebellar hypoplasia and spinal motor neuron degeneration por Jijun Wan, Michael Yourshaw, Hafsa Mamsa, Sabine Rudnik–Schöneborn, Manoj P. Menezes, Ji Eun Hong, Derek W. Leong, Jan Senderek, Michael S. Salman, David Chitayat, Pavel Seeman, Arpad von Moers, Luitgard Graul‐Neumann, Andrew J. Kornberg, Manuel Castro‐Gago, María Jesús Sobrido, Masafumi Sanefuji, Perry B. Shieh, Noriko Salamon, Ronald C. Kim, Harry V. Vinters, Zugen Chen, Klaus Zerres, Monique M. Ryan, Stanley F. Nelson, Joanna C. Jen
Publicado em 2012Artigo -
12
Clinical, neuroradiological and genetic findings in pontocerebellar hypoplasia por Yasmin Namavar, P. G. Barth, Paul R. Kasher, Fred van Ruissen, Knut Brockmann, G. Bernert, Karin Writzl, Karen Ventura, Kwang‐Ting Cheng, Donna M. Ferriero, Lina Basel‐Vanagaite, Veerle Rc Eggens, Ingeborg Krägeloh‐Mann, Linda De Meırleır, Mary D. King, John M. Graham, Arpad von Moers, N. A. V. M. Knoers, László Sztriha, Rudolf Korinthenberg, PCH Consortium, William B. Dobyns, Frank Baas, Bwee Tien Poll‐The
Publicado em 2010Artigo -
13
Improved upper limb function in non-ambulant children with SMA type 2 and 3 during nusinersen treatment: a prospective 3-years SMArtCARE registry study por Astrid Pechmann, Max Behrens, Katharina Dörnbrack, Adrian Tassoni, Franziska Wenzel, Sabine Stein, Sibylle Emilie Vogt, Daniela Zöller, G. Bernert, Tim Hagenacker, Ulrike Schara‐Schmidt, Maggie C. Walter, Astrid Bertsche, Katharina Vill, Matthias Baumann, Manuela Baumgärtner, Isabell Cordts, Astrid Eisenkölbl, Marina Flotats‐Bastardas, Johannes Friese, René Günther, Andreas Hahn, Veronka Horber, Ralf A. Husain, Sabine Illsinger, Jörg Jahnel, Jessika Johannsen, Cornelia Köhler, Heike Kölbel, Monika Müller, Arpad von Moers, Annette Schwerin-Nagel, Christof Reihle, Kurt Schlachter, Gudrun Schreiber, Oliver Schwartz, Martin Smitka, Elisabeth Steiner, Regina Trollmann, Markus Weiler, Claudia Weiß, Gert Wiegand, Ekkehard Wilichowski, Andreas Ziegler, Hanns Lochmüller, Janbernd Kirschner, Lisa Ameshofer, Bárbara Andres, Daniela Angelova-Toshkina, Daniela Banholzer, Christina Bant, Petra Baum, Sandra Baumann, Ute Baur, Benedikt Becker, Bettina Behring, Julia Bellut, Andrea Bevot, Jasmin Bischofberger, Lisa Bitzan, Bogdan Bjelica, Markus Blankenburg, Sandra Böger, Friederike Bonetti, Anke Bongartz, Svenja Brakemeier, Lisa Bratka, Nathalie Braun, Sarah Braun, Brigitte Brauner, Christa Bretschneider, Nadine Burgenmeister, Bea Burke, Sebahattin Çırak, Andrea Dall, Heike de Vries, Adela Della Marina, Jonas Denecke, Marcus Deschauer, Zylfie Dibrani, Uta Diebold, Lutz Dondit, Jessica Drebes, Joenna Driemeyer, Vladimir Dukic, Matthias Eckenweiler, Mirjam Eminger, Michal Fischer, Cornelia Fischer, Maren Freigang, Philippa Gaiser, Andrea Gangfuß, Stephanie Geitmann, Annette George, Magdalena Gosk-Tomek, Susanne Grinzinger, Kristina Gröning, Martin Groß, Anne‐Katrin Güttsches, Anna Hagenmeyer
Publicado em 2022Artigo
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Assuntos relacionados
Medicine
Biology
Internal medicine
Genetics
Gene
Pathology
Mutation
Missense mutation
Pediatrics
Duchenne muscular dystrophy
Endocrinology
Haploinsufficiency
Muscular dystrophy
Neuroscience
Phenotype
Psychiatry
Anatomy
Atrophy
Bioinformatics
Bone marrow
Choreoathetosis
Congenital hypothyroidism
Disease
Dystonia
Dystrophin
Epilepsy
Euthyroid
Hypotonia
Physical therapy
Skeletal muscle